Mutagenetix > Incidental Mutation

Incidental Mutation 'R0091:Ushbp1'

20210

Institutional Source

Beutler Lab

Gene Symbol

Ushbp1

Ensembl Gene

ENSMUSG00000034911

Gene Name

USH1 protein network component harmonin binding protein 1

Synonyms

MCC2, 2210404N08Rik

MMRRC Submission

038378-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0091 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

71836916-71848446 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71841614 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 405 (E405G)

Ref Sequence

ENSEMBL: ENSMUSP00000045668 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049184] [ENSMUST00000212626]

AlphaFold

Q8R370

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049184
AA Change: E405G

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000045668
Gene: ENSMUSG00000034911
AA Change: E405G

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
coiled coil region	179	218	N/A	INTRINSIC
Pfam:MCC-bdg_PDZ	288	352	1.3e-29	PFAM
Blast:HOLI	467	623	2e-24	BLAST
coiled coil region	628	662	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212496

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212516

Predicted Effect

probably benign
Transcript: ENSMUST00000212626

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213000

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 97.9%
10x: 94.4%
20x: 84.5%

Validation Efficiency

98% (86/88)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,932,179 (GRCm39)	S278P	possibly damaging	Het
Adam11	A	G	11: 102,663,665 (GRCm39)	Y281C	probably damaging	Het
Adam6a	G	T	12: 113,507,849 (GRCm39)	R74L	possibly damaging	Het
Adcy5	T	C	16: 35,091,368 (GRCm39)		probably null	Het
Adrb2	A	G	18: 62,312,090 (GRCm39)	L245P	probably benign	Het
Aebp2	T	C	6: 140,589,800 (GRCm39)		probably null	Het
Arhgap23	A	G	11: 97,343,070 (GRCm39)	T240A	probably benign	Het
Atp10a	T	C	7: 58,423,794 (GRCm39)		probably benign	Het
Atp13a4	T	A	16: 29,274,213 (GRCm39)	Y416F	probably damaging	Het
Atp5mc2	A	C	15: 102,571,492 (GRCm39)	L133R	probably damaging	Het
Bicral	A	T	17: 47,136,233 (GRCm39)	Y326N	probably damaging	Het
Chst4	T	C	8: 110,757,297 (GRCm39)	S189G	probably damaging	Het
Cnot1	A	T	8: 96,489,772 (GRCm39)	I477N	probably damaging	Het
Col7a1	G	T	9: 108,796,574 (GRCm39)		probably benign	Het
Dchs1	A	G	7: 105,415,301 (GRCm39)		probably benign	Het
Dcn	A	G	10: 97,342,551 (GRCm39)	N169S	probably benign	Het
Dnajc6	T	C	4: 101,473,974 (GRCm39)		probably benign	Het
Egln3	A	G	12: 54,228,432 (GRCm39)	F225L	probably benign	Het
Erap1	G	A	13: 74,816,171 (GRCm39)	R100Q	possibly damaging	Het
Erc2	A	T	14: 27,498,781 (GRCm39)		probably null	Het
Fto	G	A	8: 92,168,435 (GRCm39)		probably null	Het
Gdap1l1	C	T	2: 163,288,011 (GRCm39)	P80S	probably damaging	Het
Gm1123	T	C	9: 98,905,405 (GRCm39)	E35G	possibly damaging	Het
Hhipl1	A	G	12: 108,288,156 (GRCm39)		probably benign	Het
Ift80	A	T	3: 68,822,008 (GRCm39)	L679Q	probably damaging	Het
Il18	A	G	9: 50,488,013 (GRCm39)		probably benign	Het
Inhbb	T	C	1: 119,345,125 (GRCm39)	Y388C	probably damaging	Het
Kmt2d	G	T	15: 98,742,360 (GRCm39)		probably benign	Het
Krt20	A	G	11: 99,328,640 (GRCm39)	V95A	probably damaging	Het
Lck	A	T	4: 129,449,474 (GRCm39)	S274R	possibly damaging	Het
Lrp1	T	A	10: 127,376,848 (GRCm39)	N4243I	probably damaging	Het
Lrrfip2	G	A	9: 111,043,311 (GRCm39)	V506I	probably damaging	Het
Ltbp2	A	G	12: 84,840,507 (GRCm39)	C1000R	probably damaging	Het
Matn3	G	A	12: 9,002,105 (GRCm39)	D106N	probably damaging	Het
Mical2	A	G	7: 111,980,503 (GRCm39)	E49G	probably benign	Het
Mmadhc	A	G	2: 50,182,869 (GRCm39)	S36P	probably damaging	Het
Morn1	T	C	4: 155,229,629 (GRCm39)	Y433H	probably damaging	Het
Mpo	A	G	11: 87,692,436 (GRCm39)	M525V	probably benign	Het
Myo5a	C	T	9: 75,068,774 (GRCm39)	R659C	probably damaging	Het
Obox6	T	C	7: 15,568,364 (GRCm39)	S171G	probably benign	Het
Or1j18	A	G	2: 36,624,917 (GRCm39)	N195D	probably damaging	Het
Or4k36	T	A	2: 111,146,518 (GRCm39)	D231E	probably benign	Het
Or5g29	A	T	2: 85,421,696 (GRCm39)	N271Y	probably benign	Het
P2ry14	A	G	3: 59,023,314 (GRCm39)	Y49H	probably benign	Het
Papss2	C	T	19: 32,611,302 (GRCm39)	T17I	possibly damaging	Het
Pcid2	T	C	8: 13,135,392 (GRCm39)	T206A	probably benign	Het
Pex6	A	G	17: 47,022,844 (GRCm39)	E140G	probably damaging	Het
Ppp1r3b	A	G	8: 35,851,821 (GRCm39)	Y220C	probably damaging	Het
Prdx2	T	G	8: 85,698,330 (GRCm39)		probably benign	Het
Ptbp2	A	T	3: 119,514,310 (GRCm39)	L471Q	probably damaging	Het
Rbm33	T	A	5: 28,557,604 (GRCm39)	D232E	possibly damaging	Het
Rnf214	T	A	9: 45,809,791 (GRCm39)		probably null	Het
Rora	G	A	9: 69,281,330 (GRCm39)	R314H	probably damaging	Het
Rufy4	T	C	1: 74,168,095 (GRCm39)		probably benign	Het
Sag	T	C	1: 87,742,402 (GRCm39)	V58A	probably damaging	Het
Serpina3i	C	T	12: 104,231,423 (GRCm39)	T20M	probably damaging	Het
Slc4a5	A	G	6: 83,254,537 (GRCm39)	N578S	probably benign	Het
Soat2	A	G	15: 102,066,574 (GRCm39)	Y285C	probably damaging	Het
Syk	A	G	13: 52,794,769 (GRCm39)	Y478C	probably damaging	Het
Syne4	G	A	7: 30,018,344 (GRCm39)	G362E	probably damaging	Het
Tas2r126	A	T	6: 42,412,036 (GRCm39)	M190L	probably benign	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Ttc19	A	G	11: 62,199,910 (GRCm39)	D218G	probably damaging	Het
Tut1	T	C	19: 8,942,800 (GRCm39)	V629A	probably damaging	Het
Txndc11	T	C	16: 10,905,968 (GRCm39)	N521D	probably benign	Het
Usp46	C	T	5: 74,163,918 (GRCm39)	R246Q	probably benign	Het
Utrn	T	C	10: 12,610,948 (GRCm39)	D469G	probably damaging	Het
Vmn2r104	T	A	17: 20,262,075 (GRCm39)	I352F	possibly damaging	Het
Wdr4	G	A	17: 31,715,890 (GRCm39)	T398I	probably benign	Het
Ythdc1	T	A	5: 86,968,560 (GRCm39)		probably benign	Het

Other mutations in Ushbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01796:Ushbp1	APN	8	71,840,076 (GRCm39)	missense	probably benign
IGL02511:Ushbp1	APN	8	71,843,581 (GRCm39)	missense	probably null	0.00
IGL02586:Ushbp1	APN	8	71,841,394 (GRCm39)	splice site	probably benign
IGL02929:Ushbp1	APN	8	71,847,120 (GRCm39)	missense	probably damaging	0.99
IGL03127:Ushbp1	APN	8	71,847,020 (GRCm39)	missense	possibly damaging	0.65
R0012:Ushbp1	UTSW	8	71,847,684 (GRCm39)	unclassified	probably benign
R0012:Ushbp1	UTSW	8	71,847,684 (GRCm39)	unclassified	probably benign
R0097:Ushbp1	UTSW	8	71,843,357 (GRCm39)	missense	probably damaging	0.98
R0097:Ushbp1	UTSW	8	71,843,357 (GRCm39)	missense	probably damaging	0.98
R0242:Ushbp1	UTSW	8	71,842,762 (GRCm39)	nonsense	probably null
R0242:Ushbp1	UTSW	8	71,842,762 (GRCm39)	nonsense	probably null
R0276:Ushbp1	UTSW	8	71,847,293 (GRCm39)	missense	possibly damaging	0.83
R0308:Ushbp1	UTSW	8	71,843,697 (GRCm39)	missense	probably damaging	0.99
R0471:Ushbp1	UTSW	8	71,847,021 (GRCm39)	nonsense	probably null
R0726:Ushbp1	UTSW	8	71,841,391 (GRCm39)	splice site	probably benign
R0894:Ushbp1	UTSW	8	71,842,868 (GRCm39)	splice site	probably null
R1451:Ushbp1	UTSW	8	71,838,663 (GRCm39)	missense	possibly damaging	0.53
R1797:Ushbp1	UTSW	8	71,841,567 (GRCm39)	missense	probably damaging	0.99
R2393:Ushbp1	UTSW	8	71,847,132 (GRCm39)	missense	probably benign	0.05
R2905:Ushbp1	UTSW	8	71,840,179 (GRCm39)	nonsense	probably null
R4567:Ushbp1	UTSW	8	71,838,361 (GRCm39)	missense	probably damaging	0.99
R4717:Ushbp1	UTSW	8	71,838,313 (GRCm39)	missense	probably damaging	0.99
R4977:Ushbp1	UTSW	8	71,847,693 (GRCm39)	critical splice donor site	probably null
R5151:Ushbp1	UTSW	8	71,847,799 (GRCm39)	missense	possibly damaging	0.85
R5584:Ushbp1	UTSW	8	71,843,623 (GRCm39)	missense	possibly damaging	0.77
R5760:Ushbp1	UTSW	8	71,840,012 (GRCm39)	missense	probably damaging	0.96
R5769:Ushbp1	UTSW	8	71,838,863 (GRCm39)	missense	probably benign
R6186:Ushbp1	UTSW	8	71,843,647 (GRCm39)	missense	possibly damaging	0.91
R6661:Ushbp1	UTSW	8	71,843,305 (GRCm39)	missense	unknown
R7172:Ushbp1	UTSW	8	71,841,410 (GRCm39)	missense	possibly damaging	0.85
R7252:Ushbp1	UTSW	8	71,847,246 (GRCm39)	missense	probably benign
R7352:Ushbp1	UTSW	8	71,841,525 (GRCm39)	missense	possibly damaging	0.46
R7650:Ushbp1	UTSW	8	71,843,568 (GRCm39)	missense	possibly damaging	0.77
R7891:Ushbp1	UTSW	8	71,841,422 (GRCm39)	missense	possibly damaging	0.86
R8491:Ushbp1	UTSW	8	71,845,041 (GRCm39)	missense	probably benign
R9126:Ushbp1	UTSW	8	71,843,653 (GRCm39)	missense	probably damaging	0.98
R9189:Ushbp1	UTSW	8	71,841,539 (GRCm39)	missense	probably benign
R9680:Ushbp1	UTSW	8	71,838,573 (GRCm39)	missense	possibly damaging	0.86
R9770:Ushbp1	UTSW	8	71,838,868 (GRCm39)	missense	possibly damaging	0.91
Z1176:Ushbp1	UTSW	8	71,843,333 (GRCm39)	missense	probably benign
Z1177:Ushbp1	UTSW	8	71,847,225 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GTTGTATCTCCAGAATGGCCTGCAC -3'
(R):5'- GCACAGAGAGTCTTCACTGCCAATG -3'

Sequencing Primer
(F):5'- CAGAATGGCCTGCACTGTTG -3'
(R):5'- cctgacactcctgcctcc -3'

Posted On

2013-04-11